Sudden death of a 21-year-old female with Williams syndrome showing rare complications
Shinsaku Imashuku
Division of Pediatrics, Children’s Research Hospital and Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan
Search for more papers by this authorSyosei Hayashi
Division of Pediatrics, Children’s Research Hospital and Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan
Search for more papers by this authorKikuko Kuriyama
Division of Pediatrics, Children’s Research Hospital and Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan
Search for more papers by this authorShigeyoshi Hibi
Division of Pediatrics, Children’s Research Hospital and Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan
Search for more papers by this authorYasuhiro Tabata and Shinjiro Todo
Division of Pediatrics, Children’s Research Hospital and Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan
Search for more papers by this authorShinsaku Imashuku
Division of Pediatrics, Children’s Research Hospital and Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan
Search for more papers by this authorSyosei Hayashi
Division of Pediatrics, Children’s Research Hospital and Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan
Search for more papers by this authorKikuko Kuriyama
Division of Pediatrics, Children’s Research Hospital and Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan
Search for more papers by this authorShigeyoshi Hibi
Division of Pediatrics, Children’s Research Hospital and Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan
Search for more papers by this authorYasuhiro Tabata and Shinjiro Todo
Division of Pediatrics, Children’s Research Hospital and Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan
Search for more papers by this author
References
- 1 Jones KL & Smith DW. The Williams elfin facies syndrome. J. Pediatr. 1975; 86: 718 23.
- 2 Ewart AK, Morris CA, Atkinson DL et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat. Genet. 1993; 5: 11 16.
- 3 Lowery MC, Morris CA, Ewart A et al. Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: Evaluation of 235 patients. Am. J. Hum. Genet. 1995; 57: 49 53.
- 4 Ewart AK, Jin W, Atkinson D et al. Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene. J. Clin. Invest. 1994; 93: 1071 7.
- 5 Sharma BK, Fujiwara H, Hallman GL et al. Supravalvular aortic stenosis: A 29-year review of surgical experience. Ann. Thorac. Surg. 1991; 51: 1031 9.
- 6 Ingelfinger JR & Newburger JW. Spectrum of renal anomalies in patients with Williams syndrome. J. Pediatr. 1991; 119: 771 3.
- 7 Kaplan P, Levinson M, Kaplan BS. Cerebral artery stenoses in Williams syndrome cause strokes in childhood. J. Pediatr. 1995; 126: 943 5.
- 8 Bird LM, Billman GF, Lacro RV et al. Sudden death in Williams syndrome: Report of ten cases. J. Pediatr. 1996; 129: 926–31.
- 9 O’Connor WN, Davis Jr JB, Geissler R et al. Supravalvular aortic stenosis. Clinical and pathologic observations in six patients. Arch. Pathol. Lab. Med. 1985; 109: 179 85.
- 10 Sternberg SS. Histology for pathologists. Raven Press, New York, 1998.
- 11 Reis FP. Functional architecture of the splenic vein in the adult human. Acta Anat. 1988; 132: 109 13.
- 12 Cohle SD, Graham MA, Dowling G, Pounder DJ. Sudden death and left ventricular outflow disease. Pathol. Annu. 1988; 23: 97 124.
- 13 Kececioglu D, Kotthoff S, Vogt J. Williams–Beuren syndrome: A 30-year follow-up of natural and postoperative course. Eur. Heart J. 1993; 14: 1458 64.
Citing Literature
